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A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1.

Manes G, Hebrard M, Bocquet B, Meunier I, Coustes-Chazalette D, Sénéchal A, Bolland-Augé A, Zelenika D, Hamel CP - BMC Med. Genet. (2011)

Bottom Line: The maximum LOD score was 2.86 at θ = 0 for this locus.Five candidate genes, CERKL, BBS5, KLHL23, NEUROD1, and SF3B1 within this locus, were not mutated.A novel locus for adCRD, named CORD12, has been mapped to chromosome 2q24.2-2q33.1 in a non consanguineous French family.

View Article: PubMed Central - HTML - PubMed

Affiliation: INSERM U1051, Institute for Neurosciences of Montpellier, Montpellier, France. gael.manes@inserm.fr

ABSTRACT

Background: Rod-cone dystrophy, also known as retinitis pigmentosa (RP), and cone-rod dystrophy (CRD) are degenerative retinal dystrophies leading to blindness. To identify new genes responsible for these diseases, we have studied one large non consanguineous French family with autosomal dominant (ad) CRD.

Methods: Family members underwent detailed ophthalmological examination. Linkage analysis using microsatellite markers and a whole-genome SNP analysis with the use of Affymetrix 250 K SNP chips were performed. Five candidate genes within the candidate region were screened for mutations by direct sequencing.

Results: We first excluded the involvement of known adRP and adCRD genes in the family by genotyping and linkage analysis. Then, we undertook a whole-genome scan on 22 individuals in the family. The analysis revealed a 41.3-Mb locus on position 2q24.2-2q33.1. This locus was confirmed by linkage analysis with specific markers of this region. The maximum LOD score was 2.86 at θ = 0 for this locus. Five candidate genes, CERKL, BBS5, KLHL23, NEUROD1, and SF3B1 within this locus, were not mutated.

Conclusion: A novel locus for adCRD, named CORD12, has been mapped to chromosome 2q24.2-2q33.1 in a non consanguineous French family.

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Pedigree of family RP470 with autosomal dominant inherited cone-rod dystrophy (adCRD). Arrow indicates the index patient. Filled symbols represent members with adCRD and empty symbols represent unaffected patients. Haplotypes of microsatellite markers spanning the locus 2q24.2-2q33.1 are shown. Question marks indicate unknown alleles. Solid bars denote the haplotype that segregated with the disease phenotype.
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Figure 1: Pedigree of family RP470 with autosomal dominant inherited cone-rod dystrophy (adCRD). Arrow indicates the index patient. Filled symbols represent members with adCRD and empty symbols represent unaffected patients. Haplotypes of microsatellite markers spanning the locus 2q24.2-2q33.1 are shown. Question marks indicate unknown alleles. Solid bars denote the haplotype that segregated with the disease phenotype.

Mentions: Members of this large French non-consanguineous family (RP470) were identified with CRD which segregated as a dominant trait (adCRD). There were 9 affected patients out of 22 in 4 generations (Figure 1). Examination included assessment of visual acuity, slit lamp biomicroscopy, direct funduscopy and full field electroretinography. There was no evidence of extra-ocular signs of disease indicating that CRD was non syndromic.


A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1.

Manes G, Hebrard M, Bocquet B, Meunier I, Coustes-Chazalette D, Sénéchal A, Bolland-Augé A, Zelenika D, Hamel CP - BMC Med. Genet. (2011)

Pedigree of family RP470 with autosomal dominant inherited cone-rod dystrophy (adCRD). Arrow indicates the index patient. Filled symbols represent members with adCRD and empty symbols represent unaffected patients. Haplotypes of microsatellite markers spanning the locus 2q24.2-2q33.1 are shown. Question marks indicate unknown alleles. Solid bars denote the haplotype that segregated with the disease phenotype.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3102607&req=5

Figure 1: Pedigree of family RP470 with autosomal dominant inherited cone-rod dystrophy (adCRD). Arrow indicates the index patient. Filled symbols represent members with adCRD and empty symbols represent unaffected patients. Haplotypes of microsatellite markers spanning the locus 2q24.2-2q33.1 are shown. Question marks indicate unknown alleles. Solid bars denote the haplotype that segregated with the disease phenotype.
Mentions: Members of this large French non-consanguineous family (RP470) were identified with CRD which segregated as a dominant trait (adCRD). There were 9 affected patients out of 22 in 4 generations (Figure 1). Examination included assessment of visual acuity, slit lamp biomicroscopy, direct funduscopy and full field electroretinography. There was no evidence of extra-ocular signs of disease indicating that CRD was non syndromic.

Bottom Line: The maximum LOD score was 2.86 at θ = 0 for this locus.Five candidate genes, CERKL, BBS5, KLHL23, NEUROD1, and SF3B1 within this locus, were not mutated.A novel locus for adCRD, named CORD12, has been mapped to chromosome 2q24.2-2q33.1 in a non consanguineous French family.

View Article: PubMed Central - HTML - PubMed

Affiliation: INSERM U1051, Institute for Neurosciences of Montpellier, Montpellier, France. gael.manes@inserm.fr

ABSTRACT

Background: Rod-cone dystrophy, also known as retinitis pigmentosa (RP), and cone-rod dystrophy (CRD) are degenerative retinal dystrophies leading to blindness. To identify new genes responsible for these diseases, we have studied one large non consanguineous French family with autosomal dominant (ad) CRD.

Methods: Family members underwent detailed ophthalmological examination. Linkage analysis using microsatellite markers and a whole-genome SNP analysis with the use of Affymetrix 250 K SNP chips were performed. Five candidate genes within the candidate region were screened for mutations by direct sequencing.

Results: We first excluded the involvement of known adRP and adCRD genes in the family by genotyping and linkage analysis. Then, we undertook a whole-genome scan on 22 individuals in the family. The analysis revealed a 41.3-Mb locus on position 2q24.2-2q33.1. This locus was confirmed by linkage analysis with specific markers of this region. The maximum LOD score was 2.86 at θ = 0 for this locus. Five candidate genes, CERKL, BBS5, KLHL23, NEUROD1, and SF3B1 within this locus, were not mutated.

Conclusion: A novel locus for adCRD, named CORD12, has been mapped to chromosome 2q24.2-2q33.1 in a non consanguineous French family.

Show MeSH
Related in: MedlinePlus